A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308151



Internal ID14808413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150768529..150768530hg38UCSC Ensembl
Innerchr4:150768507..150768552hg38UCSC Ensembl
Outerchr4:150768506..150768553hg38UCSC Ensembl
chr4:151689681..151689682hg19UCSC Ensembl
Innerchr4:151689659..151689704hg19UCSC Ensembl
Outerchr4:151689658..151689705hg19UCSC Ensembl
chr4:151909131..151909132hg18UCSC Ensembl
Innerchr4:151909154..151909109hg18UCSC Ensembl
Outerchr4:151909108..151909155hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38738
hg19738
hg18738
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839524
SamplesNA12878
Known GenesLRBA
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308151
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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